Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Registry-Based Frequency of Molecularly Confirmed Osteogenesis Imperfecta in a Swiss Cohort of Individuals With Connective Tissue Disorders.

American journal of medical genetics. Part A - 1 Jun 2025

Abegglen Olivia, Srikantharupan Shajanth, Zotter Kathrin, Marcionelli Giulio, Ndarugendamwo Timothée, Lim Pei Jin, Giunta Cecilia, Kaufman Christina, Rohrbach Marianne

Abstract excerpt

Patient registries play a crucial role in advancing our understanding of rare diseases, enabling the collection of comprehensive clinical and molecular data that inform diagnosis, treatment, and management strategies and advance our understanding of rare diseases. We showcase the first Swiss registry of 796 patients with suspected or confirmed connective tissue disorders (CTD) who were referred to our center over...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Collagen Type I
Share to Collagen Type I, alpha 1 Chain

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Connective Tissue Diseases

Share to Ehlers-Danlos Syndrome

Share to Genetic Testing

Share to Osteogenesis Imperfecta

Share to Registries

Share to Switzerland

Source

Identifiers

PMID: 39957537
DOI: 10.1002/ajmg.a.64016

Genes

COL1A1
COL1A2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Registry-Based Frequency of Molecularly Confirmed Osteogenesis Imperfecta in a Swiss Cohort of Individuals With Connective Tissue Disorders.PMID 39957537Read ↗

Genetic and Clinical Spectrum of Osteogenesis Imperfecta in an Egyptian Cohort With a High Rate of Lethal Phenotypes.Semantic proximity Read ↗

Phenotypic Spectrum and Molecular Basis in a Chinese Cohort of Osteogenesis Imperfecta With Mutations in Type I CollagenSemantic proximity Read ↗

Molecular and Clinical Landscape of Osteogenesis Imperfecta: Unraveling Autosomal Recessive Forms, Therapeutic Outcomes, and Bone Mineral Density in Carriers.Semantic proximity Read ↗

Genotype and Phenotype Correlation of Patients with Osteogenesis Imperfecta.Semantic proximity Read ↗

Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and their Genotype-phenotype CorrelationSemantic proximity Read ↗

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.Semantic proximity Read ↗

Diversity in heritable disorders of connective tissue at a single center.Semantic proximity Read ↗

Unraveling the genetic collagen connection: clinical and therapeutic insights on genetic connective tissue disordersSemantic proximity Read ↗

Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis ImperfectaSemantic proximity Read ↗

Molecular spectrum of autosomal recessive osteogenesis imperfecta in 93 Italian children with bone fragility: a monocentric experience.Semantic proximity Read ↗

New Structural and Single Nucleotide Mutations in Type I and Type II Collagens in Taiwanese Children With Type I and Type II CollagenopathiesSemantic proximity Read ↗

The molecular landscape of osteogenesis imperfecta in a Brazilian tertiary service cohort.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.